Linked Data
ClinVar Variation Id:
102484
dbSNP Id:
rs62516062
ExAC:
12:103238146 C / A
gnomAD v2:
12-103238146-C-A
gnomAD v3:
12-102844368-C-A
gnomAD v4:
12-102844368-C-A
ERepo:
CA286497/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102844368C>A , CM000674.2:g.102844368C>A | GRCh38 |
| NC_000012.11:g.103238146C>A , CM000674.1:g.103238146C>A | GRCh37 |
| NC_000012.10:g.101762276C>A | NCBI36 |
| NG_008690.1:g.78235G>T | |
| NG_008690.2:g.119043G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1033G>T MANE Select | ENSP00000448059.1:p.Ala345Ser | |
| ENST00000307000.7:c.1018G>T | ENSP00000303500.2:p.Ala340Ser | |
| ENST00000549247.6:n.792G>T | ||
| ENST00000551114.2:n.695G>T | ||
| ENST00000553106.5:c.1033G>T | ENSP00000448059.1:p.Ala345Ser | |
| ENST00000635477.1:c.137G>T | ||
| ENST00000635528.1:n.548G>T | ||
| NM_000277.1:c.1033G>T | NP_000268.1:p.Ala345Ser | |
| XM_011538422.1:c.976G>T | XP_011536724.1:p.Ala326Ser | |
| NM_000277.2:c.1033G>T | NP_000268.1:p.Ala345Ser | |
| NM_001354304.1:c.1033G>T | NP_001341233.1:p.Ala345Ser | |
| NM_000277.3:c.1033G>T MANE Select | NP_000268.1:p.Ala345Ser | |
| NM_001354304.2:c.1033G>T | NP_001341233.1:p.Ala345Ser |